%0 Journal Article
%T Pesquisaje y dilema del asesoramiento gen谷tico en parejas de riesgo de anemia a hemat赤es falciformes Screening and dilemma of the genetic counselling in couples at risk for sickle cell anemia
%A Mabel Dom赤nguez Mena
%A Mar赤a Idania Viˋales Pedraza
%A Mar赤a Esther Santana Hern芍ndez
%A Estela Morales Peralta
%J Revista Cubana de Medicina General Integral
%D 2005
%I ECIMED
%X Se realiz車 un estudio descriptivo en la Consulta de Desarrollo de la Ginecolog赤a del municipio La Lisa, en el per赤odo comprendido de enero de 1999 hasta diciembre de 2003. La muestra la conformaron 338 embarazadas portadoras de anemia a hemat赤es falciformes, a las que se les brind車 asesoramiento gen谷tico que incluy車 la repetici車n del estudio de electroforesis de hemoglobina y la realizaci車n al esposo. Los datos fueron procesados en el c芍lculo porcentual. Se detectaron 28parejas de riesgo (7,4 %), de las cuales 21 (75, 0 %) optaron por el diagn車stico prenatal de hemoglobina fetal. Se encontraron 4 fetos con anemia a hemat赤es falciformes (19 %) y 9 portadores (42,8 %). No se realizaron diagn車stico prenatal 7 pacientes (25 %), de ellas 5 (71,4 %) por edad gestacional avanzada y 2 (28, 5 %) por negarse a la realizaci車n del proceder m谷dico. El asesoramiento gen谷tico fue no directivo, respetando las decisiones personales, confiabilidad, explicando la relaci車n riesgo/beneficio, y obteniendo en todos los casos el consentimiento informado para el diagn車stico prenatal. A descriptive study was undertaken at the Office of Genetics Development of La Lisa municipality from January 1999 to December 2003. The sample was composed of 338 pregnant women carriers of sickle cell anemia that received genetical counselling, which included the conduction of hemoglobin electrophoresis in the expectants and their husbands. The data were processed by percentage calculation. 28 risk couples were detected (7.2 %), of which 21 (75 %) chose the prenatal diagnosis of fetal hemoglobin. 4 fetoes with sickle cell anemia (19 %) and 9 carriers (42.8 %) were found. 7 patients did not have prenatal diganosis (25 %), 5 of them (71.4 %) due to advanced gestational age and 2 (28.5 %) for rejecting to do so. The genetical counselling was not directive. The personal decisions were respected and reliability was guaranteed. The risk/benefit relation was explained and in all cases the informed consent for the prenatal diagnosis was obtained.
%K Anemia a hemat赤es falciformes
%K portador
%K asesoramiento gen谷tico
%K diagn車stico prenatal
%K consentimiento informado
%K electroforesis de hemoglobina
%K riesgo
%K beneficio
%K Sickle cell anemia
%K carrier
%K genetic counselling
%K prenatal diagnosis
%K informed consent
%K hemoglobin electrophoresis
%K risk
%K benefit
%U http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-21252005000100014